MCID: MYP007
MIFTS: 27

Myopathy Due to Cpt Ii Deficiency malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Myopathy Due to Cpt Ii Deficiency

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Aliases & Descriptions for Myopathy Due to Cpt Ii Deficiency:

Name: Myopathy Due to Cpt Ii Deficiency 51 12
Carnitine Palmitoyltransferase 2 Deficiency Late-Onset 69 26
Carnitine Palmitoyl Transferase Deficiency Type 2, Adult-Onset Form 53
Carnitine Palmitoyl Transferase Deficiency Type 2, Myopathic Form 53
Carnitine Palmitoyl Transferase Ii Deficiency, Adult-Onset Form 53
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 53
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 51
Carnitine Palmitoyl Transferase 2 Deficiency 67
 
Carnitine Palmitoyltransferase Ii Deficiency 69
Cptii, Adult-Onset Form 53
Cpt2, Adult-Onset Form 53
Cptii, Myopathic Form 53
Cpt2, Myopathic Form 53
Cpt-Ii Deficiency 69
Cpt2 Deficiency 69
Cpt2d 69

Characteristics:

Orphanet epidemiological data:

53
carnitine palmitoyl transferase deficiency type 2, adult-onset form:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

63
myopathy due to cpt ii deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 255110
Orphanet53 ORPHA228302
ICD10 via Orphanet30 E71.3
MedGen36 C1833508

Summaries for Myopathy Due to Cpt Ii Deficiency

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UniProtKB/Swiss-Prot:69 Carnitine palmitoyltransferase 2 deficiency late-onset: Autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.

MalaCards based summary: Myopathy Due to Cpt Ii Deficiency, also known as carnitine palmitoyltransferase 2 deficiency late-onset, is related to cpt ii deficiency, lethal neonatal and cpt deficiency, hepatic, type ii, and has symptoms including muscle weakness, myopathy and myalgia. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include liver.

OMIM:51 Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty... (255110) more...

Related Diseases for Myopathy Due to Cpt Ii Deficiency

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Diseases related to Myopathy Due to Cpt Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cpt ii deficiency, lethal neonatal12.2
2cpt deficiency, hepatic, type ii11.5

Symptoms for Myopathy Due to Cpt Ii Deficiency

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Symptoms by clinical synopsis from OMIM:

255110

Clinical features from OMIM:

255110

Human phenotypes related to Myopathy Due to Cpt Ii Deficiency:

 63 53 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness63 53 hallmark (90%) Very frequent (99-80%) HP:0001324
2 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
3 myalgia63 53 hallmark (90%) Very frequent (99-80%) HP:0003326
4 renal insufficiency63 53 typical (50%) Frequent (79-30%) HP:0000083
5 myoglobinuria63 HP:0002913
6 rhabdomyolysis63 HP:0003201
7 muscle cramps63 HP:0003394
8 muscle stiffness63 HP:0003552
9 abnormality of the musculature53 Very frequent (99-80%)
10 elevated serum creatine phosphokinase53 Very frequent (99-80%)
11 fatigue53 Very frequent (99-80%)

UMLS symptoms related to Myopathy Due to Cpt Ii Deficiency:


muscle cramp, muscular stiffness, myalgia

Drugs & Therapeutics for Myopathy Due to Cpt Ii Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myopathy Due to Cpt Ii Deficiency

Genetic Tests for Myopathy Due to Cpt Ii Deficiency

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Genetic tests related to Myopathy Due to Cpt Ii Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset26

Anatomical Context for Myopathy Due to Cpt Ii Deficiency

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MalaCards organs/tissues related to Myopathy Due to Cpt Ii Deficiency:

35
Liver

Animal Models for Myopathy Due to Cpt Ii Deficiency or affiliated genes

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Publications for Myopathy Due to Cpt Ii Deficiency

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Variations for Myopathy Due to Cpt Ii Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

69 (show all 18)
id Symbol AA change Variation ID SNP ID
1CPT2p.Pro50HisVAR_001391rs28936674
2CPT2p.Ser113LeuVAR_001392rs74315294
3CPT2p.Glu174LysVAR_001393rs28936674
4CPT2p.Phe383TyrVAR_001396rs28936673
5CPT2p.Asp553AsnVAR_001397rs28936376
6CPT2p.Met214ThrVAR_007966rs515726174
7CPT2p.Pro227LeuVAR_007967rs74315298
8CPT2p.Phe448LeuVAR_007968rs74315297
9CPT2p.Tyr479PheVAR_007969rs749895856
10CPT2p.Arg503CysVAR_007970rs74315296
11CPT2p.Gly549AspVAR_007971rs186044004
12CPT2p.Arg151GlnVAR_020540rs515726177
13CPT2p.Tyr210AspVAR_020541
14CPT2p.Arg296GlnVAR_020542rs764849762
15CPT2p.Gln550ArgVAR_020543
16CPT2p.Gly600ArgVAR_020544
17CPT2p.Pro604SerVAR_020545
18CPT2p.Asp213GlyVAR_037976rs74315300

Clinvar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

5 (show all 39)
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.534_558del25insT (p.Leu178_Ile186delinsPhe)indelPathogenicrs515726173GRCh37Chr 1, 53675880: 53675904
2CPT2NM_000098.2(CPT2): c.641T> C (p.Met214Thr)SNVPathogenicrs515726174GRCh37Chr 1, 53675987: 53675987
3CPT2NM_000098.2(CPT2): c.983A> G (p.Asp328Gly)SNVPathogenicrs515726175GRCh37Chr 1, 53676329: 53676329
4CPT2NM_000098.2(CPT2): c.1145G> A (p.Arg382Lys)SNVPathogenicrs515726176GRCh37Chr 1, 53676491: 53676491
5CPT2NM_000098.2(CPT2): c.452G> A (p.Arg151Gln)SNVPathogenicrs515726177GRCh37Chr 1, 53675798: 53675798
6CPT2NM_000098.2(CPT2): c.1646G> A (p.Gly549Asp)SNVPathogenicrs186044004GRCh37Chr 1, 53678936: 53678936
7CPT2NM_000098.2(CPT2): c.1737delC (p.Tyr579Terfs)deletionPathogenicrs515726178GRCh37Chr 1, 53679027: 53679027
8CPT2NM_000098.2(CPT2): c.1923_1935delGAAGGCCTTAGAA (p.Lys642Thrfs)deletionPathogenicrs515726179GRCh37Chr 1, 53679213: 53679225
9CPT2NM_000098.2(CPT2): c.886C> T (p.Arg296Ter)SNVLikely pathogenic, Pathogenicrs727503887GRCh37Chr 1, 53676232: 53676232
10CPT2NM_000098.2(CPT2): c.370C> T (p.Arg124Ter)SNVLikely pathogenic, Pathogenicrs201065226GRCh37Chr 1, 53675716: 53675716
11CPT2NM_000098.2: c.110_111dupGCduplicationLikely pathogenicChr na, -1: -1
12CPT2NM_000098.2: c.1774_1775delCTdeletionLikely pathogenicChr na, -1: -1
13CPT2NM_000098.2: c.1645+2T> GSNVLikely pathogenicChr na, -1: -1
14CPT2NM_000098.2: c.1545_1548delCTTTdeletionLikely pathogenicChr na, -1: -1
15CPT2NM_000098.2: c.1345C> TSNVLikely pathogenicChr na, -1: -1
16CPT2NM_000098.2: c.75delCdeletionLikely pathogenicChr na, -1: -1
17CPT2NM_000098.2: c.95delGdeletionLikely pathogenicChr na, -1: -1
18CPT2NM_000098.2: c.606T> ASNVLikely pathogenicChr na, -1: -1
19CPT2NM_000098.2: c.1414C> TSNVLikely pathogenicChr na, -1: -1
20CPT2NM_000098.2: c.1359_1362delAGAAdeletionLikely pathogenicChr na, -1: -1
21CPT2NM_000098.2: c.54_72dup19duplicationLikely pathogenicChr na, -1: -1
22CPT2NM_000098.2: c.1046dupAduplicationLikely pathogenicChr na, -1: -1
23CPT2NM_000098.2: c.1614C> ASNVLikely pathogenicChr na, -1: -1
24CPT2NM_000098.2: c.1345delCinsTAindelLikely pathogenicChr na, -1: -1
25CPT2NM_000098.2: c.1053G> ASNVLikely pathogenicChr na, -1: -1
26CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)SNV, HaplotypePathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
27CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)SNVPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
28CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)SNVPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
29CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)SNVPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
30CPT2NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn)SNVPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
31CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)SNVPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
32CPT2NM_000098.2(CPT2): c.520G> A (p.Glu174Lys)SNVPathogenicrs28936674GRCh37Chr 1, 53675866: 53675866
33CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)SNVLikely pathogenic, Pathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
34CPT2NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys)SNVPathogenicrs74315296GRCh37Chr 1, 53676853: 53676853
35CPT2NM_000098.2(CPT2): c.680C> T (p.Pro227Leu)SNVPathogenicrs74315298GRCh37Chr 1, 53676026: 53676026
36CPT2NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter)SNVPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
37CPT2NM_000098.2(CPT2): c.638A> G (p.Asp213Gly)SNVPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984
38CPT2NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys)SNVLikely pathogenic, Pathogenicrs121918528GRCh37Chr 1, 53675705: 53675705
39CPT2NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs)deletionPathogenicrs397509431GRCh37Chr 1, 53676585: 53676586

Expression for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Search GEO for disease gene expression data for Myopathy Due to Cpt Ii Deficiency.

Pathways for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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GO Terms for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Sources for Myopathy Due to Cpt Ii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet